### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GNAT1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "GNAT1" "guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1" "3" "p21" "unknown" "NG_009831.1" "UD_132118487247" "" "http://www.LOVD.nl/GNAT1" "" "1" "4393" "2779" "139330" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GNAT1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2015-10-24 15:35:25" "00006" "2025-04-07 13:47:05" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024067" "GNAT1" "transcript variant 1" "001" "NM_144499.2" "" "NP_653082.1" "" "" "" "-116" "3483" "1053" "50229043" "50235129" "00006" "2015-10-24 15:30:34" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "02942" "CSNBAD3" "blindness, night, stationary, congenital, autosomal dominant, type 3 (CSNBAD-3)" "AD" "610444" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04489" "CSNB1G" "blindness, night, stationary, congenital, type 1G (CSNB-1G)" "AR" "616389" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "GNAT1" "02942" "GNAT1" "04489" ## Individuals ## Do not remove or alter this header ## ## Count = 53 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00100084" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61130" "00240436" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00246588" "" "" "" "9" "" "00006" "{PMID:Szabo 2007:17584859}" "4-generation family, 9 affected (3F, 9M)" "F;M" "no" "Denmark" "" "0" "" "" "" "" "00246589" "" "" "" "4" "" "00006" "{PMID:Naeem 2012:22190596}" "5-generation family, 4 affected (F, 3M)" "F;M" "yes" "Pakistan" "" "0" "" "" "" "" "00246590" "" "" "" "1" "" "00006" "{PMID:Carrigan 2016:26472407}" "" "M" "" "Ireland" "" "0" "" "" "" "" "00309171" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309172" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00325499" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3662" "00328392" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680975" "00328393" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690765" "00328394" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680650" "00363363" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM783" "00363364" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM665" "00372628" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP373" "00372701" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP391" "00376529" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00379402" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379403" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379404" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00382547" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "409" "00390044" "" "" "" "1" "" "00000" "{PMID:Liu 2020:32562694}" "" "?" "" "China" "" "0" "" "" "" "G1502" "00392629" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "104" "00395849" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F253" "00413598" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1724" "M" "" "France" "" "0" "" "" "" "XI:1" "00413599" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1725" "M" "" "France" "" "0" "" "" "" "XI:4" "00413600" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1726" "F" "" "France" "" "0" "" "" "" "XI:6" "00413601" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1727" "M" "" "France" "" "0" "" "" "" "XI:8" "00413602" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1728" "M" "" "France" "" "0" "" "" "" "XI:13" "00413603" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1729" "F" "" "France" "" "0" "" "" "" "XII:1" "00413604" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1730" "M" "" "France" "" "0" "" "" "" "XII:12" "00413605" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1731" "M" "" "France" "" "0" "" "" "" "XII:14" "00413606" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1719" "F" "" "France" "" "0" "" "" "" "IX:12" "00413607" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1720" "M" "" "France" "" "0" "" "" "" "X:2" "00413608" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1721" "M" "" "France" "" "0" "" "" "" "X:6" "00413609" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1722" "M" "" "France" "" "0" "" "" "" "X:8" "00413610" "" "" "" "1" "" "00000" "{PMID:Dryja 1996:8673138}" "12-generation French family, first documented case lived in France 1637-1723" "M" "" "France" "" "0" "" "" "" "X:12" "00413613" "" "" "" "1" "" "00000" "{PMID:Mejecase 2016:27977773}" "" "M" "" "France" "" "0" "" "" "French / Italian" "II.1" "00413620" "" "" "" "1" "" "00000" "{PMID:Zeitz 2018:29850563};{PMID:Marmor 2018:30051303}" "proband" "M" "" "" "" "0" "" "" "Hong-Kong Chinese" "I:1" "00413621" "" "" "" "1" "" "00000" "{PMID:Zeitz 2018:29850563};{PMID:Marmor 2018:30051303}" "proband\'s daughter" "F" "" "" "" "0" "" "" "Hong-Kong Chinese" "II:1" "00413623" "" "" "" "1" "" "00000" "{PMID:Kubota 2019:31696758}" "proband" "M" "" "Japan" "" "0" "" "" "Japanese" "II:1" "00413624" "" "" "" "1" "" "00000" "{PMID:Kubota 2019:31696758}" "proband\'s sister 1" "F" "" "Japan" "" "0" "" "" "Japanese" "II:2" "00413625" "" "" "" "1" "" "00000" "{PMID:Kubota 2019:31696758}" "proband\'s sister 2" "F" "" "Japan" "" "0" "" "" "Japanese" "II:3" "00415046" "" "" "" "1" "" "04364" "" "" "M" "no" "India" ">56y" "" "yes" "none" "Asian" "" "00420550" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F253" "00426646" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:31583501}" "proband\'s daughter" "F" "" "Japan" "" "0" "" "" "Japanese" "III-1" "00426647" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:31583501}" "proband\'s son" "M" "" "Japan" "" "0" "" "" "Japanese" "III-2" "00426648" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:31583501}" "proband\'s maternal aunt; I:3 on the pedigree" "F" "" "Japan" "" "0" "" "" "Japanese" "I-2" "00426649" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:31583501}" "proband" "F" "" "Japan" "" "0" "" "" "Japanese" "II-2" "00426650" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:31583501}" "proband\'s sister" "F" "" "Japan" "" "0" "" "" "Japanese" "II-3" "00426651" "" "" "" "1" "" "00000" "{PMID:Hayashi 2020:31583501}" "proband\'s maternal aunt\'s daughter 1, also had an affected sister (untested)" "F" "" "Japan" "" "0" "" "" "Japanese" "II-4" "00430113" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00444225" "" "" "" "1" "" "00006" "{PMID:Kim 2021:34064005}" "" "M" "" "Korea" "" "0" "" "" "" "Pat2" "00447316" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1246" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 53 "{{individualid}}" "{{diseaseid}}" "00100084" "05130" "00240436" "00381" "00246588" "05130" "00246589" "05130" "00246590" "05130" "00309171" "04214" "00309172" "04214" "00325499" "04214" "00328392" "04214" "00328393" "04214" "00328394" "04214" "00363363" "04214" "00363364" "04214" "00372628" "04214" "00372701" "04214" "00376529" "04214" "00379402" "04214" "00379403" "04214" "00379404" "04214" "00382547" "04214" "00390044" "04214" "00392629" "04214" "00395849" "04214" "00413598" "04214" "00413599" "04214" "00413600" "04214" "00413601" "04214" "00413602" "04214" "00413603" "04214" "00413604" "04214" "00413605" "04214" "00413606" "04214" "00413607" "04214" "00413608" "04214" "00413609" "04214" "00413610" "04214" "00413613" "04214" "00413620" "04214" "00413621" "04214" "00413623" "04214" "00413624" "04214" "00413625" "04214" "00415046" "05130" "00420550" "04214" "00426646" "04214" "00426647" "04214" "00426648" "04214" "00426649" "04214" "00426650" "04214" "00426651" "04214" "00430113" "00112" "00444225" "05130" "00447316" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00381, 02942, 04214, 04489, 05130 ## Count = 52 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000078324" "05130" "00100084" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186445" "05130" "00246588" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNBAD-3" "congenital stationary night blindness" "" "0000186446" "05130" "00246589" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "CSNB-1G" "congenital stationary night blindness" "" "0000186447" "05130" "00246590" "00006" "Familial, autosomal recessive" "" "see paper; ..., lifelong night-blindness, significant pigmentary disturbance, constriction of visual fields (retinitis pigmentosa)" "" "" "" "" "" "" "" "" "" "night blindness" "" "0000234491" "04214" "00309171" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234492" "04214" "00309172" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000243986" "04214" "00325499" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246618" "04214" "00328392" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" "" "0000246619" "04214" "00328393" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246620" "04214" "00328394" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" "" "0000258728" "04214" "00363363" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258729" "04214" "00363364" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000267907" "04214" "00372628" "00000" "Familial, autosomal dominant" "45y" "see paper; ..." "12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267980" "04214" "00372701" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271736" "04214" "00376529" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000273275" "04214" "00379402" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" "" "0000273276" "04214" "00379403" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273277" "04214" "00379404" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" "" "0000276396" "04214" "00382547" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000283584" "04214" "00390044" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "early-onset primary angle closure glaucoma" "early-onset primary angle closure glaucoma" "" "0000285876" "04214" "00392629" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "congenital stationary night blindness" "" "0000289011" "04214" "00395849" "00000" "Unknown" "53y" "" "17y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000305572" "04214" "00413598" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305573" "04214" "00413599" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305574" "04214" "00413600" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305575" "04214" "00413601" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305576" "04214" "00413602" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305577" "04214" "00413603" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305578" "04214" "00413604" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305579" "04214" "00413605" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305580" "04214" "00413606" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305581" "04214" "00413607" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305582" "04214" "00413608" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305583" "04214" "00413609" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305584" "04214" "00413610" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness, Nougaret form" "" "" "0000305585" "04214" "00413613" "00000" "Familial, autosomal recessive" "32y" "no relevant personal medical history, no familial history of night blindness or retinal disease besides high myopia on father side; best corrected visual acuity and refraction right; left eye: 20/80, -9(-1)160deg ; 20/63 -6(-1.50)20deg; color vision desaturated Farnworth 15Hue: a tritan axis defect; kinetic visual field tests: bilateral abnormalities with a relative preservation of the central 30deg with the III4e stimulus; full field electroretinogram: undetectable for both scotopic and photopic responses in keeping with severe rod-cone dysfunction; multifocal electroretinogram responses: undetectable; fundus: optic nerve pallor, narrowed retinal vessels, pigment clumping in retinal periphery some of which resembling more to coarse numular pigment rather than classical bone spicules, as well as perifoveal atrophic changes; short-wavelength fundus autofluorescence: hypo-autofluorescent lesions in the periphery as well as in the perifoveal area; spectral domain optical coherence tomography: thinning of the outer retinal layers" "<15y" "" "night vision disturbances and progressive visual field constriction" "" "" "" "" "" "rod-cone dystrophy" "" "" "0000305586" "04214" "00413620" "00000" "Familial, autosomal dominant" "42y" "postural orthostatic tachycardia syndrome (POTS) (MIM: 604715); best corrected visual acuity right, left eye: 20/25, 20/20, roughly -10 D myopic; no nystagmus or strabismus; retinal exam: unremarkable except for tilted myopic discs and some myopic depigmentation particularly in the peripapillary area; widefield and central fundus autofluorescence: no retinal degeneration, spectral domain optical coherence tomography: maculae normal; visual evoked potential: normal; electroretinogram: typical findings of Riggs-type CSNB with no rod response to a weak (0.01) or strong (3.0) scotopic flash, and the combined rod-cone 3.0 scotopic response looked like a cone b-wave, photopic 3.0 cone and flicker responses: essentially normal" "" "" "severe night blindness" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000305587" "04214" "00413621" "00000" "Familial, autosomal dominant" "20y" "postural orthostatic tachycardia syndrome (POTS) (MIM: 604715); best corrected visual acuity right, left eye: 20/25, 20/20; roughly -3 D myopic; no nystagmus or strabismus; retinal exam: unremarkable except for tilted myopic discs and some myopic depigmentation particularly in the peripapillary area; widefield and central fundus autofluorescence: no retinal degeneration, spectral domain optical coherence tomography: maculae normal; electroretinogram: typical findings of Riggs-type CSNB with no rod response to a weak (0.01) or strong (3.0) scotopic flash, and the combined rod-cone 3.0 scotopic response looked like a cone b-wave, photopic 3.0 cone and flicker responses: essentially normal" "" "" "severe night blindness" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000305588" "04214" "00413623" "00000" "Familial, autosomal recessive" "15y" "best corrected visual acuity: 1.0 both eyes, no nystagmus or strabismus; fundus examination under light-adapted conditions: slight golden appearance, dark-adapted: Mizuo-Nakamura phenomenon not observed after three hours of dark adaptation; fundus autofluorescence: normal; spectral domain optical coherence tomography: unremarkable with the ellipsoid and interdigitation zones intact; electroretinogram: scotopic a-waves extinguished; a-waves of the mixed rod-cone responses markedly reduced, and the b-waves present, but severely reduced - negative-type electroretinograms; oscillatory potentials of the mixed rod-cone electroretinograms: relatively well-preserved; amplitudes of the photopic b-waves: mildly reduced; implicit times of the cone electroretinograms: delayed" "" "" "night blindness from childhood" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000305589" "04214" "00413624" "00000" "Familial, autosomal recessive" "13y" "best corrected visual acuity: 1.0 both eyes, no nystagmus or strabismus; fundus examination under light-adapted conditions: slight golden appearance, dark-adapted: Mizuo-Nakamura phenomenon not observed after three hours of dark adaptation; fundus autofluorescence: normal; spectral domain optical coherence tomography: unremarkable with the ellipsoid and interdigitation zones intact; electroretinogram: scotopic a-waves extinguished; a-waves of the mixed rod-cone responses markedly reduced, and the b-waves present, but severely reduced - negative-type electroretinograms; amplitudes of the photopic b-waves: severely reduced; implicit times of the cone electroretinograms: delayed" "" "" "night blindness from childhood" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000305590" "04214" "00413625" "00000" "Familial, autosomal recessive" "11y" "best corrected visual acuity: 1.0 both eyes, no nystagmus or strabismus; fundus examination under light-adapted conditions: slight golden appearance, dark-adapted: Mizuo-Nakamura phenomenon not observed after three hours of dark adaptation; fundus autofluorescence: normal; spectral domain optical coherence tomography: unremarkable with the ellipsoid and interdigitation zones intact; electroretinogram: scotopic a-waves extinguished; a-waves of the mixed rod-cone responses markedly reduced, and the b-waves present, but severely reduced - negative-type electroretinograms; oscillatory potentials of the mixed rod-cone electroretinograms: relatively well-preserved; amplitudes of the photopic b-waves: mildly reduced; implicit times of the cone electroretinograms: delayed" "" "" "night blindness from childhood" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000306847" "05130" "00415046" "04364" "Familial, autosomal recessive" "47y" "" "10y" "47y" "" "" "" "" "" "" "CSNB" "CSNB" "" "0000311798" "04214" "00420550" "00000" "Familial, autosomal dominant" "53y" "" "17y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000317801" "04214" "00426646" "00000" "Familial, autosomal recessive" "7y" "decimal best corrected visual acuity and refraction right, left eye: 0.35 (+ 2.50 diopter sphere) / 0.2 (+ 3.25 diopter sphere), 5y: best corrected visual acuity: nearly 1.0; slit-lamp examination: no remarkable findings; retinal examination: gray discoloration within the vascular arcade in the fundus photographs, fundus autofluorescence: hypoautofluorescent macular area with a hyperautofluorescent ring; optical coherence tomography: disrupted ellipsoid zone with foveal thinning; dark-adapted full-field electroretinogram right eye: non-recordable rod response to a weak flash (dark adaptation 0.01), severely decreased a- and b-wave responses to a strong flash (dark adaptation 3.0), but notably about one-third of normal response to a stronger flash (dark adaptation 200)" "" "" "" "" "" "" "" "" "congenital stationary night blindness and cone-rod dystrophy" "" "" "0000317802" "04214" "00426647" "00000" "Familial, autosomal recessive" "5y" "5y: best corrected visual acuity and refraction right, left eye: 0.7 (+ 0.25 diopter sphere) / 0.7 (+ 0.25 diopter sphere); slit-lamp and funduscopy examination: no remarkable findings; fundus autofluorescence: a hyperautofluorescent ring around the macula; optical coherence tomography: a thickened external limiting membrane; 6y8m best corrected visual acuity right, left eye: decreased to 0.1 / 0.15; optical coherence tomography: disappearance of the thickened ELM and thinner foveal thickness compared to that at 5 years of age - progressive loss of visual acuity; dark-adapted full field electroretinography: very similar to those of patient III-1; photopic cone (light-adapted 3.0) and 30-Hz flicker (light-adapted 3.0 flicker) responses: severely decreased" "" "" "" "" "" "" "" "" "congenital stationary night blindness and cone-rod dystrophy" "" "" "0000317803" "04214" "00426648" "00000" "Familial, autosomal recessive" "74y" "good visual acuity, never complained of visual symptoms except for congenital night blindness" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000317804" "04214" "00426649" "00000" "Familial, autosomal recessive" "34y" "never complained of visual symptoms except for night blindness; no systemic medical history; decimal best corrected visual acuity and refraction right, left eye: 1.2 (- 1.75 diopter sphere) / 1.5 (- 1.75 diopter sphere; slit-lamp examination: no abnormal findings in the anterior segment and media. funduscopy, fundus autofluorescence, cross-sectional macular optical coherence tomography: no remarkable findings; full field electroretinography: non-recordable rod response to a weak flash (dark adaptation 0.01 cd s m-2; dark adaptation 0.01) in rod electroretinogram but at least half of a- and b-wave responses in dark adaptation 3.0, dark adaptation 10.0, and dark adaptation 200 electroretinogram after 30 min of dark-adaptation in the right eye, as well as after 24 h of dark adaptation in the left eye; dark adaptation 3.0 responses: distinguishing delayed and broadened a-waves and negative-type waveforms (b/a ratio less than 1.0); photopic cone (light-adapted 3.0 cd s m-2; light-adapted 3.0) and 30-Hz flicker (light-adapted 3.0 flicker) responses: completely normal, clear on and off responses observed" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000317805" "04214" "00426650" "00000" "Familial, autosomal recessive" "37y" "decimal best corrected visual acuity and refraction right, left eye: 1.5 (- 1.00 diopter sphere) / 1.5 (- 0.50 diopter sphere); slit-lamp examination, funduscopy, fundus autofluorescence, cross-sectional macular optical coherence tomography: no remarkable findings; full field electroretinography: very similar to those of the proband (II-2)" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000317806" "04214" "00426651" "00000" "Familial, autosomal recessive" "49y" "good visual acuity, never complained of visual symptoms except for congenital night blindness" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000320985" "00112" "00430113" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333478" "05130" "00444225" "00006" "Familial, autosomal dominant" "9y" "see paper; ..., no strabismus, no nystagmus" "8y" "" "" "" "" "" "" "" "CSNBAD3" "congenital stationary night blindness" "" "0000336515" "00198" "00447316" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 53 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100488" "00100084" "1" "01769" "01769" "2017-01-30 16:39:45" "" "" "SEQ" "DNA" "WBC" "" "0000241546" "00240436" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000247700" "00246588" "1" "00006" "00006" "2019-07-14 12:33:13" "" "" "SEQ" "DNA" "" "" "0000247701" "00246589" "1" "00006" "00006" "2019-07-14 12:48:54" "" "" "SEQ" "DNA" "" "" "0000247702" "00246590" "1" "00006" "00006" "2019-07-14 12:53:02" "" "" "SEQ" "DNA" "" "" "0000310316" "00309171" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310317" "00309172" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000326710" "00325499" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329606" "00328392" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329607" "00328393" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329608" "00328394" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000364591" "00363363" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364592" "00363364" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000373860" "00372628" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373933" "00372701" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000377734" "00376529" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000380602" "00379402" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380603" "00379403" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380604" "00379404" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000383761" "00382547" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000391285" "00390044" "1" "00000" "03840" "2021-11-08 12:45:13" "" "" "SEQ-NG-I" "DNA" "blood" "326 selected genes from whole exome sequencing" "0000393876" "00392629" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000397088" "00395849" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000414877" "00413598" "1" "00000" "03840" "2022-07-20 13:48:12" "" "" "STR;SEQ" "DNA" "blood" "" "0000414878" "00413599" "1" "00000" "03840" "2022-07-20 13:48:12" "" "" "STR;SEQ" "DNA" "blood" "" "0000414879" "00413600" "1" "00000" "03840" "2022-07-20 13:48:12" "" "" "STR;SEQ" "DNA" "blood" "" "0000414880" "00413601" "1" "00000" "03840" "2022-07-20 13:48:12" "" "" "STR;SEQ" "DNA" "blood" "" "0000414881" "00413602" "1" "00000" "03840" "2022-07-20 13:48:12" "" "" "STR;SEQ" "DNA" "blood" "" "0000414882" "00413603" "1" "00000" "03840" "2022-07-20 13:48:12" "" "" "STR;SEQ" "DNA" "blood" "" "0000414883" "00413604" "1" "00000" "03840" "2022-07-20 13:48:12" "" "" "STR;SEQ" "DNA" "blood" "" "0000414884" "00413605" "1" "00000" "03840" "2022-07-20 13:48:12" "" "" "STR;SEQ" "DNA" "blood" "" "0000414885" "00413606" "1" "00000" "03840" "2022-07-20 13:54:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000414886" "00413607" "1" "00000" "03840" "2022-07-20 13:54:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000414887" "00413608" "1" "00000" "03840" "2022-07-20 13:54:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000414888" "00413609" "1" "00000" "03840" "2022-07-20 13:54:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000414889" "00413610" "1" "00000" "03840" "2022-07-20 13:54:21" "" "" "STR;SEQ" "DNA" "blood" "" "0000414892" "00413613" "1" "00000" "03840" "2022-07-20 14:09:32" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000414899" "00413620" "1" "00000" "03840" "2022-07-20 14:43:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414900" "00413621" "1" "00000" "03840" "2022-07-20 14:43:07" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000414903" "00413623" "1" "00000" "03840" "2022-07-20 20:53:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing; exome sequencing" "0000414904" "00413624" "1" "00000" "03840" "2022-07-20 20:53:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing; exome sequencing" "0000414905" "00413625" "1" "00000" "03840" "2022-07-20 20:53:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted next generation sequencing; exome sequencing" "0000416327" "00415046" "1" "04364" "04364" "2022-08-06 12:14:12" "" "" "SEQ-NG" "DNA" "" "" "0000421859" "00420550" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000427966" "00426646" "1" "00000" "03840" "2022-12-02 12:04:56" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000427967" "00426647" "1" "00000" "03840" "2022-12-02 12:04:56" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000427968" "00426648" "1" "00000" "03840" "2022-12-02 12:04:56" "" "" "SEQ" "DNA" "" "" "0000427969" "00426649" "1" "00000" "03840" "2022-12-02 12:04:56" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000427970" "00426650" "1" "00000" "03840" "2022-12-02 12:04:56" "" "" "SEQ" "DNA" "" "" "0000427971" "00426651" "1" "00000" "03840" "2022-12-02 12:04:56" "" "" "SEQ" "DNA" "" "" "0000431526" "00430113" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000445723" "00444225" "1" "00006" "00006" "2023-12-21 09:57:54" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000448893" "00447316" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{geneid}}" "0000100488" "GNAT1" "0000241546" "GNAT1" "0000247700" "GNAT1" "0000247701" "GNAT1" "0000247702" "GNAT1" "0000310316" "GNAT1" "0000310317" "GNAT1" "0000326710" "GNAT1" "0000329606" "GNAT1" "0000329607" "GNAT1" "0000329608" "GNAT1" "0000364591" "GNAT1" "0000364592" "GNAT1" "0000377734" "GNAT1" "0000380602" "GNAT1" "0000380603" "GNAT1" "0000380604" "GNAT1" "0000383761" "GNAT1" "0000391285" "GNAT1" "0000393876" "GNAT1" "0000397088" "GNAT1" "0000414877" "GNAT1" "0000414878" "GNAT1" "0000414879" "GNAT1" "0000414880" "GNAT1" "0000414881" "GNAT1" "0000414882" "GNAT1" "0000414883" "GNAT1" "0000414884" "GNAT1" "0000414885" "GNAT1" "0000414886" "GNAT1" "0000414887" "GNAT1" "0000414888" "GNAT1" "0000414889" "GNAT1" "0000414892" "GNAT1" "0000414899" "GNAT1" "0000414900" "GNAT1" "0000414903" "GNAT1" "0000414904" "GNAT1" "0000414905" "GNAT1" "0000416327" "GNAT1" "0000421859" "GNAT1" "0000427966" "ABCA4" "0000427967" "ABCA4" "0000427968" "GNAT1" "0000427969" "GNAT1" "0000427970" "GNAT1" "0000427971" "GNAT1" "0000431526" "GNAT1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 81 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000162787" "3" "90" "3" "50231033" "50231033" "subst" "0" "01769" "GNAT1_000001" "g.50231033A>G" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50193600A>G" "" "pathogenic" "" "0000256193" "0" "50" "3" "50225507" "50225507" "subst" "0" "01943" "SEMA3F_000002" "g.50225507A>G" "" "" "" "SEMA3F(NM_001318800.1):c.2224A>G (p.K742E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50188074A>G" "" "VUS" "" "0000277340" "0" "10" "3" "50230941" "50230941" "subst" "0.000155118" "02330" "GNAT1_000002" "g.50230941C>T" "" "" "" "GNAT1(NM_144499.2):c.294C>T (p.D98=), GNAT1(NM_144499.3):c.294C>T (p.D98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50193508C>T" "" "benign" "" "0000277341" "0" "10" "3" "50232211" "50232211" "subst" "0.000354347" "02330" "GNAT1_000004" "g.50232211C>T" "" "" "" "GNAT1(NM_144499.2):c.876C>T (p.Y292=), GNAT1(NM_144499.3):c.876C>T (p.Y292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50194778C>T" "" "benign" "" "0000288544" "0" "30" "3" "50231579" "50231579" "subst" "0" "01943" "GNAT1_000003" "g.50231579C>T" "" "" "" "GNAT1(NM_144499.2):c.633C>T (p.F211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50194146C>T" "" "likely benign" "" "0000344747" "0" "70" "3" "50232239" "50232239" "subst" "2.43964E-5" "02327" "GNAT1_000005" "g.50232239C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.50194806C>T" "" "likely pathogenic" "" "0000487556" "3" "90" "3" "50230830" "50230830" "del" "2.03198E-5" "03335" "GNAT1_000006" "g.50230830del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.50193397del" "" "pathogenic (recessive)" "" "0000500567" "1" "90" "3" "50231544" "50231544" "subst" "0" "00006" "GNAT1_000008" "g.50231544C>G" "" "{PMID:Szabo 2007:17584859}" "" "" "not in 104 control chromosomes" "Germline" "yes" "" "0" "" "" "g.50194111C>G" "" "pathogenic (dominant)" "" "0000500568" "3" "90" "3" "50231033" "50231033" "subst" "0" "00006" "GNAT1_000001" "g.50231033A>G" "" "{PMID:Naeem 2012:22190596}" "" "" "" "Germline" "yes" "" "0" "" "" "g.50193600A>G" "" "pathogenic (recessive)" "" "0000500569" "3" "90" "3" "50232239" "50232239" "subst" "2.43964E-5" "00006" "GNAT1_000005" "g.50232239C>T" "" "{PMID:Carrigan 2016:26472407}" "" "" "unaffected heterozygous carrier daughter" "Germline" "" "" "0" "" "" "g.50194806C>T" "" "pathogenic (recessive)" "" "0000520269" "0" "30" "3" "50229173" "50229173" "subst" "2.03242E-5" "01943" "SEMA3F_000003" "g.50229173C>T" "" "" "" "GNAT1(NM_144499.2):c.15C>T (p.A5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50191740C>T" "" "likely benign" "" "0000520270" "0" "10" "3" "50230681" "50230681" "subst" "0.00121423" "02330" "SEMA3F_000004" "g.50230681G>A" "" "" "" "GNAT1(NM_144499.3):c.150-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50193248G>A" "" "benign" "" "0000520271" "0" "10" "3" "50231130" "50231136" "dup" "0" "02330" "SEMA3F_000005" "g.50231130_50231136dup" "" "" "" "GNAT1(NM_144499.3):c.449+31_449+37dupCGCGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50193697_50193703dup" "" "benign" "" "0000520272" "0" "30" "3" "50232211" "50232211" "subst" "0.000354347" "01943" "GNAT1_000004" "g.50232211C>T" "" "" "" "GNAT1(NM_144499.2):c.876C>T (p.Y292=), GNAT1(NM_144499.3):c.876C>T (p.Y292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50194778C>T" "" "likely benign" "" "0000608787" "0" "30" "3" "50229224" "50229224" "subst" "9.75872E-5" "02330" "SEMA3F_000006" "g.50229224C>T" "" "" "" "GNAT1(NM_144499.3):c.66C>T (p.D22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50191791C>T" "" "likely benign" "" "0000608788" "0" "50" "3" "50231026" "50231026" "subst" "1.64382E-5" "02327" "SEMA3F_000007" "g.50231026T>C" "" "" "" "GNAT1(NM_144499.2):c.379T>C (p.W127R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50193593T>C" "" "VUS" "" "0000621292" "0" "30" "3" "50230941" "50230941" "subst" "0.000155118" "01943" "GNAT1_000002" "g.50230941C>T" "" "" "" "GNAT1(NM_144499.2):c.294C>T (p.D98=), GNAT1(NM_144499.3):c.294C>T (p.D98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.50193508C>T" "" "likely benign" "" "0000677055" "0" "30" "3" "50229197" "50229197" "subst" "0.000125996" "01943" "SEMA3F_000009" "g.50229197G>A" "" "" "" "GNAT1(NM_144499.2):c.39G>A (p.R13=), GNAT1(NM_144499.3):c.39G>A (p.R13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677056" "0" "50" "3" "50232030" "50232030" "subst" "4.06445E-6" "02330" "GNAT1_000009" "g.50232030G>C" "" "" "" "GNAT1(NM_144499.3):c.805G>C (p.V269L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000685227" "0" "90" "3" "50229166" "50229166" "del" "0" "00004" "GNAT1_000010" "g.50229166del" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.8delC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685228" "0" "70" "3" "50231196" "50231196" "subst" "4.2014E-6" "00004" "GNAT1_000011" "g.50231196G>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000689113" "0" "30" "3" "50231664" "50231664" "subst" "2.3093E-5" "01943" "GNAT1_000012" "g.50231664A>T" "" "" "" "GNAT1(NM_144499.2):c.708+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710302" "3" "90" "3" "50230830" "50230830" "del" "2.03198E-5" "00006" "GNAT1_000006" "g.50230830del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "282delT" "ACMG PVS1, PM2, PP4" "Germline" "" "" "0" "" "" "g.50193397del" "" "pathogenic" "ACMG" "0000713954" "1" "70" "3" "50230766" "50230766" "subst" "0" "00000" "GNAT1_000013" "g.50230766C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.50193333C>T" "" "likely pathogenic (dominant)" "" "0000713955" "1" "70" "3" "50231244" "50231244" "subst" "0.000102301" "00000" "GNAT1_000014" "g.50231244G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "rs149647295" "0" "" "" "g.50193811G>A" "" "likely pathogenic (dominant)" "" "0000713956" "1" "70" "3" "50231599" "50231599" "subst" "9.79456E-5" "00000" "GNAT1_000015" "g.50231599T>C" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.50194166T>C" "" "likely pathogenic (dominant)" "" "0000719524" "0" "30" "3" "50230936" "50230936" "subst" "3.67548E-5" "01943" "SEMA3F_000010" "g.50230936C>T" "" "" "" "GNAT1(NM_144499.2):c.292-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719525" "0" "50" "3" "50231026" "50231026" "subst" "1.64382E-5" "01943" "SEMA3F_000007" "g.50231026T>C" "" "" "" "GNAT1(NM_144499.2):c.379T>C (p.W127R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765456" "1" "70" "3" "50231060" "50231060" "subst" "0" "00000" "GNAT1_000016" "g.50231060G>A" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.50193627G>A" "" "likely pathogenic" "" "0000765457" "1" "70" "3" "50232044" "50232044" "subst" "1.62639E-5" "00000" "GNAT1_000017" "g.50232044G>T" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.50194611G>T" "" "likely pathogenic" "" "0000784657" "0" "50" "3" "50231599" "50231599" "subst" "9.79456E-5" "00000" "GNAT1_000015" "g.50231599T>C" "2/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.50194166T>C" "" "VUS" "" "0000784661" "0" "50" "3" "50231599" "50231599" "subst" "9.79456E-5" "00000" "GNAT1_000015" "g.50231599T>C" "2/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.50194166T>C" "" "VUS" "" "0000790159" "0" "50" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000793754" "0" "70" "3" "50230766" "50230766" "subst" "0" "00000" "GNAT1_000013" "g.50230766C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.218C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793755" "0" "70" "3" "50231244" "50231244" "subst" "0.000102301" "00000" "GNAT1_000014" "g.50231244G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.508G>A" "" "Unknown" "" "rs149647295" "0" "" "" "" "" "likely pathogenic" "" "0000793756" "0" "70" "3" "50231599" "50231599" "subst" "9.79456E-5" "00000" "GNAT1_000015" "g.50231599T>C" "" "{PMID:Zhou-2011:21677794}" "" "c.653T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798008" "0" "50" "3" "50230566" "50230566" "subst" "4.06524E-6" "00000" "GNAT1_000018" "g.50230566G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "GNAT1 c.107G>A, p.(Gly36Asp)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.50193133G>A" "" "VUS" "ACMG" "0000801308" "0" "50" "3" "50231541" "50231541" "subst" "0" "02330" "GNAT1_000019" "g.50231541G>A" "" "" "" "GNAT1(NM_144499.3):c.595G>A (p.G199R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801309" "0" "50" "3" "50232321" "50232321" "subst" "0.000109727" "01943" "GNAT1_000020" "g.50232321A>C" "" "" "" "GNAT1(NM_144499.2):c.986A>C (p.K329T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801310" "0" "50" "3" "50232376" "50232376" "dup" "0" "02330" "GNAT1_000021" "g.50232376dup" "" "" "" "GNAT1(NM_144499.3):c.1041dupT (p.G348Wfs*86)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821021" "0" "70" "3" "50232028" "50232028" "subst" "8.1277E-6" "00000" "GNAT1_000022" "g.50232028A>C" "1/64" "{PMID:Liu 2020:32562694}" "" "GNAT1 c.803A>C, p.Asp268Ala" "heterozygous" "Germline/De novo (untested)" "?" "rs763074721" "0" "" "" "g.50194595A>C" "" "likely pathogenic" "" "0000824698" "0" "50" "3" "50230839" "50230839" "subst" "0" "00000" "GNAT1_000023" "g.50230839G>C" "" "{PMID:Ma 2021:33691693}" "" "GNAT1 c.G291C, p.Q97H" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.50193406G>C" "" "VUS" "ACMG" "0000824785" "0" "50" "3" "50232007" "50232007" "subst" "0" "00000" "GNAT1_000024" "g.50232007T>A" "" "{PMID:Ma 2021:33691693}" "" "GNAT1 c.T782A, p.V261E" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.50194574T>A" "" "VUS" "ACMG" "0000828834" "0" "90" "3" "50232196" "50232196" "subst" "0" "00000" "GNAT1_000025" "g.50232196A>G" "" "{PMID:Chen 2021:43360855}" "" "GNAT1 c.[863-2A>G];[863-2=], V1: c.863-2A>G," "heterozygous" "Unknown" "?" "" "0" "" "" "g.50194763A>G" "" "pathogenic" "ACMG" "0000850374" "0" "70" "3" "50229209" "50229209" "del" "4.06438E-6" "02330" "SEMA3F_000012" "g.50229209del" "" "" "" "GNAT1(NM_144499.3):c.51delG (p.K18Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000872598" "11" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872599" "11" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872600" "11" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872601" "20" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872602" "11" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872603" "21" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872604" "11" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872605" "11" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872606" "10" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872607" "10" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872608" "20" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872609" "21" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872610" "10" "70" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Dryja 1996:8673138}" "" "GNAT1 Gly38Asp" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "likely pathogenic (dominant)" "" "0000872613" "3" "70" "3" "50232298" "50232298" "subst" "4.06468E-6" "00000" "GNAT1_000026" "g.50232298C>A" "" "{PMID:Mejecase 2016:27977773}" "" "GNAT1 c.963C>A p.(Cys321*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.50194865C>A" "" "likely pathogenic (recessive)" "" "0000872620" "0" "70" "3" "50230703" "50230703" "subst" "0" "00000" "GNAT1_000027" "g.50230703T>A" "" "{PMID:Zeitz 2018:29850563}, {PMID:Marmor 2018:30051303}" "" "GNAT1 c.155T>A p.Ile52Asn" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50193270T>A" "" "likely pathogenic (dominant)" "" "0000872621" "11" "70" "3" "50230703" "50230703" "subst" "0" "00000" "GNAT1_000027" "g.50230703T>A" "" "{PMID:Zeitz 2018:29850563}{PMID:Marmor 2018:30051303}" "" "GNAT1 c.155T>A p.Ile52Asn" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50193270T>A" "" "likely pathogenic (dominant)" "" "0000872623" "3" "70" "3" "50232043" "50232045" "del" "0" "00000" "GNAT1_000028" "g.50232043_50232045del" "" "{PMID:Kubota 2019:31696758}" "" "GNAT1 c.818_820delAGA, p.Lys273del" "homozygous" "Germline" "yes" "" "0" "" "" "g.50194610_50194612del" "" "likely pathogenic (recessive)" "" "0000872624" "3" "70" "3" "50232043" "50232045" "del" "0" "00000" "GNAT1_000028" "g.50232043_50232045del" "" "{PMID:Kubota 2019:31696758}" "" "GNAT1 c.818_820delAGA, p.Lys273del" "homozygous" "Germline" "yes" "" "0" "" "" "g.50194610_50194612del" "" "likely pathogenic (recessive)" "" "0000872625" "3" "70" "3" "50232043" "50232045" "del" "0" "00000" "GNAT1_000028" "g.50232043_50232045del" "" "{PMID:Kubota 2019:31696758}" "" "GNAT1 c.818_820delAGA, p.Lys273del" "homozygous" "Germline" "yes" "" "0" "" "" "g.50194610_50194612del" "" "likely pathogenic (recessive)" "" "0000874379" "1" "70" "3" "50229256" "50229256" "subst" "0" "04364" "GNAT1_000029" "g.50229256T>C" "" "" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000874734" "2" "70" "3" "50230583" "50230583" "subst" "0" "04364" "GNAT1_000030" "g.50230583A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000885911" "0" "30" "3" "50229197" "50229197" "subst" "0.000125996" "02330" "SEMA3F_000009" "g.50229197G>A" "" "" "" "GNAT1(NM_144499.2):c.39G>A (p.R13=), GNAT1(NM_144499.3):c.39G>A (p.R13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896680" "1" "90" "3" "50232196" "50232196" "subst" "0" "00000" "GNAT1_000025" "g.50232196A>G" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "GNAT1 c.[863-2A>G];[863-2=]; p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.50194763A>G" "" "pathogenic" "" "0000905543" "21" "90" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Hayashi 2020:31583501}" "" "GNAT1 p.G38D" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "pathogenic" "" "0000905544" "21" "90" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Hayashi 2020:31583501}" "" "GNAT1 p.G38D" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "pathogenic" "" "0000905545" "21" "90" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Hayashi 2020:31583501}" "" "GNAT1 p.G38D" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "pathogenic" "" "0000905546" "21" "90" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Hayashi 2020:31583501}" "" "GNAT1 p.G38D" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "pathogenic" "" "0000905548" "21" "90" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Hayashi 2020:31583501}" "" "GNAT1 p.G38D" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "pathogenic" "" "0000905550" "0" "90" "3" "50230572" "50230572" "subst" "4.06448E-6" "00000" "GNAT1_000007" "g.50230572G>A" "" "{PMID:Hayashi 2020:31583501}" "" "GNAT1 p.G38D" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.50193139G>A" "" "pathogenic" "" "0000916724" "3" "90" "3" "50231006" "50231006" "subst" "0.000106093" "04436" "GNAT1_000031" "g.50231006C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.359C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000928810" "0" "50" "3" "50231959" "50231959" "subst" "0" "02327" "GNAT1_000032" "g.50231959T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948189" "0" "50" "3" "50231310" "50231310" "subst" "1.22127E-5" "02327" "SEMA3F_000013" "g.50231310T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000953884" "0" "90" "3" "50231978" "50231978" "subst" "4.47158E-5" "00006" "GNAT1_000033" "g.50231978C>A" "" "{PMID:Kim 2021:34064005}" "" "" "" "Germline" "" "" "0" "" "" "g.50194545C>A" "" "pathogenic (dominant)" "" "0000958661" "0" "50" "3" "50231250" "50231250" "subst" "0" "00006" "GNAT1_000034" "g.50231250C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.50193817C>G" "" "VUS" "ACMG" "0000993788" "0" "30" "3" "50225480" "50225480" "subst" "1.0073E-5" "01804" "SEMA3F_000014" "g.50225480C>T" "" "" "" "SEMA3F(NM_004186.3):c.2290C>T (p.(Pro764Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024837" "0" "50" "3" "50231532" "50231532" "subst" "0" "02329" "GNAT1_000035" "g.50231532G>A" "" "" "" "GNAT1(NM_144499.3):c.586G>A (p.D196N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GNAT1 ## Count = 81 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000162787" "00024067" "90" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Asp129Gly)" "4" "0000256193" "00024067" "50" "-3652" "0" "-3652" "0" "c.-3652A>G" "r.(?)" "p.(=)" "" "0000277340" "00024067" "10" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Asp98=)" "" "0000277341" "00024067" "10" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Tyr292=)" "" "0000288544" "00024067" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Phe211=)" "" "0000344747" "00024067" "70" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Gln302Ter)" "" "0000487556" "00024067" "90" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Ala95Hisfs*9)" "3" "0000500567" "00024067" "90" "598" "0" "598" "0" "c.598C>G" "r.(?)" "p.(Gln200Glu)" "" "0000500568" "00024067" "90" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Asp129Gly)" "4" "0000500569" "00024067" "90" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Gln302*)" "" "0000520269" "00024067" "30" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Ala5=)" "" "0000520270" "00024067" "10" "150" "-17" "150" "-17" "c.150-17G>A" "r.(=)" "p.(=)" "" "0000520271" "00024067" "10" "449" "34" "449" "40" "c.449+34_449+40dup" "r.(=)" "p.(=)" "" "0000520272" "00024067" "30" "876" "0" "876" "0" "c.876C>T" "r.(?)" "p.(Tyr292=)" "" "0000608787" "00024067" "30" "66" "0" "66" "0" "c.66C>T" "r.(?)" "p.(Asp22=)" "" "0000608788" "00024067" "50" "379" "0" "379" "0" "c.379T>C" "r.(?)" "p.(Trp127Arg)" "" "0000621292" "00024067" "30" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Asp98=)" "" "0000677055" "00024067" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Arg13=)" "" "0000677056" "00024067" "50" "805" "0" "805" "0" "c.805G>C" "r.(?)" "p.(Val269Leu)" "" "0000685227" "00024067" "90" "8" "0" "8" "0" "c.8del" "r.(?)" "p.(Ala3Valfs*17)" "" "0000685228" "00024067" "70" "460" "0" "460" "0" "c.460G>T" "r.(?)" "p.(Asp154Tyr)" "" "0000689113" "00024067" "30" "708" "10" "708" "10" "c.708+10A>T" "r.(=)" "p.(=)" "" "0000710302" "00024067" "90" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Ala95Hisfs*9)" "" "0000713954" "00024067" "70" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Met)" "" "0000713955" "00024067" "70" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Val170Met)" "" "0000713956" "00024067" "70" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Ile218Thr)" "" "0000719524" "00024067" "30" "292" "-3" "292" "-3" "c.292-3C>T" "r.spl?" "p.?" "" "0000719525" "00024067" "50" "379" "0" "379" "0" "c.379T>C" "r.(?)" "p.(Trp127Arg)" "" "0000765456" "00024067" "70" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138His)" "" "0000765457" "00024067" "70" "819" "0" "819" "0" "c.819G>T" "r.(?)" "p.(Lys273Asn)" "" "0000784657" "00024067" "50" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Ile218Thr)" "" "0000784661" "00024067" "50" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Ile218Thr)" "" "0000790159" "00024067" "50" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "2" "0000793754" "00024067" "70" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Thr73Met)" "3" "0000793755" "00024067" "70" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Val170Met)" "5" "0000793756" "00024067" "70" "653" "0" "653" "0" "c.653T>C" "r.(?)" "p.(Ile218Thr)" "6" "0000798008" "00024067" "50" "107" "0" "107" "0" "c.107G>A" "r.(?)" "p.(Gly36Asp)" "" "0000801308" "00024067" "50" "595" "0" "595" "0" "c.595G>A" "r.(?)" "p.(Gly199Arg)" "" "0000801309" "00024067" "50" "986" "0" "986" "0" "c.986A>C" "r.(?)" "p.(Lys329Thr)" "" "0000801310" "00024067" "50" "1041" "0" "1041" "0" "c.1041dup" "r.(?)" "p.(Gly348Trpfs*86)" "" "0000821021" "00024067" "70" "803" "0" "803" "0" "c.803A>C" "r.(?)" "p.(Asp268Ala)" "" "0000824698" "00024067" "50" "291" "0" "291" "0" "c.291G>C" "r.(?)" "p.(Gln97His)" "" "0000824785" "00024067" "50" "782" "0" "782" "0" "c.782T>A" "r.(?)" "p.(Val261Glu)" "" "0000828834" "00024067" "90" "863" "-2" "863" "-2" "c.863-2A>G" "r.spl" "p.(?)" "" "0000850374" "00024067" "70" "51" "0" "51" "0" "c.51del" "r.(?)" "p.(Lys18Serfs*2)" "" "0000872598" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872599" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872600" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872601" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872602" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872603" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872604" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872605" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872606" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872607" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872608" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872609" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872610" "00024067" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "6" "0000872613" "00024067" "70" "963" "0" "963" "0" "c.963C>A" "r.(?)" "p.(Cys321*)" "8" "0000872620" "00024067" "70" "155" "0" "155" "0" "c.155T>A" "r.(?)" "p.(Ile52Asn)" "3" "0000872621" "00024067" "70" "155" "0" "155" "0" "c.155T>A" "r.(?)" "p.(Ile52Asn)" "3" "0000872623" "00024067" "70" "818" "0" "820" "0" "c.818_820del" "r.(?)" "p.(Lys273del)" "7" "0000872624" "00024067" "70" "818" "0" "820" "0" "c.818_820del" "r.(?)" "p.(Lys273del)" "7" "0000872625" "00024067" "70" "818" "0" "820" "0" "c.818_820del" "r.(?)" "p.(Lys273del)" "7" "0000874379" "00024067" "70" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Pro)" "1" "0000874734" "00024067" "70" "124" "0" "124" "0" "c.124A>G" "r.(?)" "p.(Lys42Glu)" "" "0000885911" "00024067" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Arg13=)" "" "0000896680" "00024067" "90" "863" "-2" "863" "-2" "c.863-2A>G" "r.spl" "p.?" "" "0000905543" "00024067" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "" "0000905544" "00024067" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "" "0000905545" "00024067" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "" "0000905546" "00024067" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "" "0000905548" "00024067" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "" "0000905550" "00024067" "90" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Gly38Asp)" "" "0000916724" "00024067" "90" "359" "0" "359" "0" "c.359C>A" "r.(?)" "p.(Ser120*)" "4" "0000928810" "00024067" "50" "734" "0" "734" "0" "c.734T>A" "r.(?)" "p.(Leu245Gln)" "" "0000948189" "00024067" "50" "574" "0" "574" "0" "c.574T>C" "r.(?)" "p.(Phe192Leu)" "" "0000953884" "00024067" "90" "753" "0" "753" "0" "c.753C>A" "r.(?)" "p.(Asn251Lys)" "" "0000958661" "00024067" "50" "514" "0" "514" "0" "c.514C>G" "r.(?)" "p.(Arg172Gly)" "" "0000993788" "00024067" "30" "-3679" "0" "-3679" "0" "c.-3679C>T" "r.(?)" "p.(=)" "" "0001024837" "00024067" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Asp196Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000100488" "0000162787" "0000241546" "0000487556" "0000247700" "0000500567" "0000247701" "0000500568" "0000247702" "0000500569" "0000310316" "0000685227" "0000310317" "0000685228" "0000326710" "0000710302" "0000329606" "0000713954" "0000329607" "0000713955" "0000329608" "0000713956" "0000364591" "0000765456" "0000364592" "0000765457" "0000373860" "0000784657" "0000373933" "0000784661" "0000377734" "0000790159" "0000380602" "0000793754" "0000380603" "0000793755" "0000380604" "0000793756" "0000383761" "0000798008" "0000391285" "0000821021" "0000393876" "0000824698" "0000393876" "0000824785" "0000397088" "0000828834" "0000414877" "0000872598" "0000414878" "0000872599" "0000414879" "0000872600" "0000414880" "0000872601" "0000414881" "0000872602" "0000414882" "0000872603" "0000414883" "0000872604" "0000414884" "0000872605" "0000414885" "0000872606" "0000414886" "0000872607" "0000414887" "0000872608" "0000414888" "0000872609" "0000414889" "0000872610" "0000414892" "0000872613" "0000414899" "0000872620" "0000414900" "0000872621" "0000414903" "0000872623" "0000414904" "0000872624" "0000414905" "0000872625" "0000416327" "0000874379" "0000416327" "0000874734" "0000421859" "0000896680" "0000427966" "0000905548" "0000427967" "0000905550" "0000427968" "0000905543" "0000427969" "0000905544" "0000427970" "0000905545" "0000427971" "0000905546" "0000431526" "0000916724" "0000445723" "0000953884" "0000448893" "0000958661"